Abstract

BackgroundThe increasing availability of DNA markers provides new metrics of inbreeding based on single nucleotide polymorphisms (SNPs), i.e. molecular inbreeding or the proportion of runs of homozygosity (ROH), as alternatives to traditional pedigree-based inbreeding coefficients. However, none of these metrics incorporate the length of ROH as an indicator of recent inbreeding. Novel inbreeding coefficients that incorporate length of ROH as a random variable with an associated density are investigated.MethodsNew inbreeding metrics based on the distribution of the length of ROH are proposed: (1) the Kolmolgorov–Smirnov test, (2) a function of the quantiles of the cumulative distribution function of an individual versus the population, and (3) fitting of an exponential distribution to ROH lengths (mean, variance, and the probability of drawing at random a ROH larger than a given threshold). The new inbreeding and pedigree-based metrics were compared using 217 sows of an Iberian line that belong to three groups: C1 (conservation), C2 (conservation derived from C1), and S (selected and derived from C1), with complete pedigrees and genotyped for 35,023 SNPs.ResultsCorrelations between pedigree-based and the new genomic inbreeding coefficients ranged from 0.22 to 0.72 but most ranged from 0.60 to 0.70. The correlation between quantile chromosomal inbreeding coefficients (using molecular information of just one chromosome at the time) and chromosomal length was 0.84 (SE = 0.14), supporting the hypothesis that these coefficients incorporate information on ROH length as an indication of recent inbreeding. Kolmogorov–Smirnov and exponential chromosomal inbreeding coefficients were also correlated with chromosomal length (0.57). Chromosome 1 had the largest quantile ROH inbreeding coefficient (largest ROH sizes), whereas chromosome 10 had the lowest (shortest ROH sizes). Selection for lean growth increased ROH-based inbreeding coefficients for group S when compared to unselected groups C1 and C2. At the chromosomal level, this comparison showed that the level of autozygosity and the length of ROH for most of the autosomes increased in the selection line.ConclusionsQuantile and exponential probability inbreeding coefficients using ROH length as a random variable provide additional information about recent inbreeding compared to existing inbreeding coefficients such as molecular, pedigree-based or total ROH content inbreeding coefficients.Electronic supplementary materialThe online version of this article (doi:10.1186/s12711-015-0153-1) contains supplementary material, which is available to authorized users.

Highlights

  • The increasing availability of DNA markers provides new metrics of inbreeding based on single nucleo‐ tide polymorphisms (SNPs), i.e. molecular inbreeding or the proportion of runs of homozygosity (ROH), as alternatives to traditional pedigree-based inbreeding coefficients

  • The objective of this paper was to investigate the use of ROH length as a random variable with an associated distribution or probability density to derive new inbreeding coefficients: (1) a method based on the Kolmogorov–Smirnov test, (2) a method based on quantiles of the distribution of the length of ROH, and (3) a method based on fitting an exponential distribution to the ROHlength distribution

  • The Kolmogorov–Smirnov method measures the maximum distance between two cumulative distributions and the observed differences in the cumulative distribution for the ROH lengths of these two individuals justify this metric

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Summary

Introduction

The increasing availability of DNA markers provides new metrics of inbreeding based on single nucleo‐ tide polymorphisms (SNPs), i.e. molecular inbreeding or the proportion of runs of homozygosity (ROH), as alternatives to traditional pedigree-based inbreeding coefficients None of these metrics incorporate the length of ROH as an indicator of recent inbreeding. Genome-wide single nucleotide polymorphism (SNP) bead chips are used to assess levels of homozygosity [6] or to estimate pedigree-based inbreeding coefficients [7, 8]. These approaches assume that SNPs are unlinked and they do not make use of all available information. SNPs are physically linked and alleles at linked markers on the same homologous chromosome are inherited together unless a recombination event occurs between them

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